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Record W4414870790 · doi:10.1101/2025.10.03.680292

A Convolutional Deep Learning Approach to identify DNA Sequences for Gene Prediction

2025· preprint· en· W4414870790 on OpenAlexaff
Jésus Antonio Motta

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicFractal and DNA sequence analysis
Canadian institutionsUniversité Laval
Fundersnot available
KeywordsPseudogeneDeep learningConvolutional neural networkHuman genomeMetric (unit)GenomeGeneDNA sequencingArtificial neural network

Abstract

fetched live from OpenAlex

Abstract In this work, we present a highly efficient machine learning method for identifying DNA sequences that code for genes. The learning process is based on Human Genome Build 38 (GRCh38) sequences extracted from various specialized databases. The DNA sequences were then translated into amino acid sequences and used to build matrices that facilitate the extraction of features with the TF×IDF vectorization for the creation of the training space. The prediction functions are learned using a convolutional neural network (CNN) deep learning model. The training spaces were created using the 24 chromosomes of the human genome and approximately 36,000 genes and pseudogenes whose names were fetched from the HUGO Gene Nomenclature Committee (HGNC). Performance analysis was performed on 24 genes associated with genetic disorders, as well as the surrounding DNA regions. The metrics used were precision, recall, F_score measure, accuracy and ROC curves for the genes of interest. The results achieved exceed all our expectations and place the work at the level of the state of the art for gene prediction.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Simulation or modeling · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.007
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.014
GPT teacher head0.246
Teacher spread0.233 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designSimulation or modeling
Domainnot available
GenreMethods

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2025
Admission routes1
Has abstractyes

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